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206439006 Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency

206439006 Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency

Owned by Arvind Kuppusamy
Last updated: Jul 16, 2024

Summary

Text Definitions

  • Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency is a condition in newborns where the breakdown of red blood cells, caused by a lack of the enzyme glucose-6-phosphate dehydrogenase, leads to a buildup of bilirubin, resulting in yellowing of the skin and eyes.

Descriptions

   Suggest Synonym
  • Neonatal jaundice with glucose-6-phosphate dehydrogenase deficiency [ 900000000000013009 Synonym en, en_GB ]
  • Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency (disorder) [ 900000000000003001 Fully specified name en_GB, en ]
  • Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency [ 900000000000013009 Synonym en_GB, en ]

Parent Concepts

Child Concepts

   Suggest Child Concept
None

Defining Attributes

  • Role Group: 2
    • 363698007 Finding site => 707861009 Structure of skin and/or skin-associated mucous membrane
  • Role Group: 3

Refsets

Mapsets

Diagram

JSON Document

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    "conceptId": "206439006",
    "fsn": {
        "term": "Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency (disorder)",
        "lang": "en"
    },
    "active": true,
    "effectiveTime": "20220731",
    "definitionStatus": "FULLY_DEFINED",
    "descriptions": [
        {
            "active": true,
            "term": "Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency (disorder)",
            "typeId": "900000000000003001",
            "acceptabilityMap": {
                "900000000000508004": "Preferred (foundation metadata concept)",
                "900000000000509007": "Preferred (foundation metadata concept)"
            }
        }
    ],
    "relationships": [
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                }
            },
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        },
        {
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                    "term": "Associated morphology (attribute)"
                }
            },
            "target": {
                "conceptId": "74571009",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Bile pigmentation (morphologic abnormality)"
                }
            },
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        },
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            "typeId": "246454002",
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                    "term": "Scleral structure (body structure)"
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        },
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                }
            },
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        },
        {
            "active": true,
            "typeId": "42752001",
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            "target": {
                "conceptId": "124134002",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Deficiency of glucose-6-phosphate dehydrogenase (disorder)"
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            },
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            "target": {
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                "definitionStatus": "PRIMITIVE",
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                    "term": "Hyperbilirubinemia (disorder)"
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            },
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                "fsn": {
                    "term": "Hereditary hemolytic anemia (disorder)"
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            "groupId": 5
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    ]
}

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